Version: 8.0.0
Date: Tue Jan 28 2025
Sgms1
Mus musculusMGI:2444110
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Sgms1

Species
Mus musculus
Symbol
Sgms1
Name
sphingomyelin synthase 1
Synonyms
  • 9530058O11Rik
  • AI841905
Biotype
protein coding gene
Automated Description
Enables ceramide phosphoethanolamine synthase activity and sphingomyelin synthase activity. Involved in sphingomyelin biosynthetic process. Acts upstream of or within ceramide biosynthetic process. Predicted to be located in Golgi trans cisterna. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; ear; limb; and respiratory system. Orthologous to human SGMS1 (sphingomyelin synthase 1).
MGI Description
PHENOTYPE: Homozygotes for a null allele show decreased body weight and insulin secretion, pancreatic beta-cell mitochondrial dysfunction, and premature death. Homozygotes for another null allele show altered spermatogenesis, testicular lipid profiles and blood-testis barrier function, and male infertility. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21290
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Sgms1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Sgms1 role
            Sgms1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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